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NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) AND Epileptic encephalopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000417024.3

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)]

NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)

Gene:
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)
Other names:
p.R406C:CGC>TGC
HGVS:
  • NC_000009.12:g.127675909C>T
  • NG_016623.1:g.68703C>T
  • NM_001032221.6:c.1216C>TMANE SELECT
  • NM_001374306.2:c.1207C>T
  • NM_001374307.2:c.1174C>T
  • NM_001374308.2:c.1174C>T
  • NM_001374309.2:c.1174C>T
  • NM_001374310.2:c.1174C>T
  • NM_001374311.2:c.1174C>T
  • NM_001374312.2:c.1174C>T
  • NM_001374313.2:c.1216C>T
  • NM_001374314.1:c.1216C>T
  • NM_001374315.2:c.1108C>T
  • NM_003165.6:c.1216C>T
  • NP_001027392.1:p.Arg406Cys
  • NP_001361235.1:p.Arg403Cys
  • NP_001361236.1:p.Arg392Cys
  • NP_001361237.1:p.Arg392Cys
  • NP_001361238.1:p.Arg392Cys
  • NP_001361239.1:p.Arg392Cys
  • NP_001361240.1:p.Arg392Cys
  • NP_001361241.1:p.Arg392Cys
  • NP_001361242.1:p.Arg406Cys
  • NP_001361243.1:p.Arg406Cys
  • NP_001361244.1:p.Arg370Cys
  • NP_003156.1:p.Arg406Cys
  • NC_000009.11:g.130438188C>T
  • NM_001032221.3:c.1216C>T
  • NM_001032221.4:c.1216C>T
  • NM_001032221.6:c.1216C>T
  • NM_003165.2:c.1216C>T
  • NM_003165.3:c.1216C>T
Protein change:
R370C
Links:
dbSNP: rs796053367
NCBI 1000 Genomes Browser:
rs796053367
Molecular consequence:
  • NM_001032221.6:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374306.2:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374307.2:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374308.2:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374309.2:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374310.2:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374311.2:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374312.2:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374313.2:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374314.1:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374315.2:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003165.6:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Epileptic encephalopathy
Identifiers:
MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494528Neurogenetics Laboratory - MEYER, AOU Meyer
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 16, 2016) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1noclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neurogenetics Laboratory - MEYER, AOU Meyer, SCV000494528.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024